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Disturbances of nuclear condensation in human spermatozoa: search for mutations in the genes for protamine 1, protamine 2 and transition protein 1.

Abstract
During spermiogenesis, the successive replacement of the somatic histones by basic proteins, the transition proteins and protamines, allows normal sperm nuclear condensation. It was suggested that disturbances in nuclear condensation may result in male infertility. Here we report the first molecular analysis of the structure of three genes which code for germ cell-specific nuclear proteins, namely protamine 1 (PRM1), protamine 2 (PRM2) and transition protein 1 (TNP1) in infertile men with disturbed sperm chromatin condensation. In 36 infertile men whose spermatozoa showed a positive reaction with aniline blue, which is an indication for the presence of histones in the nuclei, the complete nucleotide sequences of the coding regions and 5' and 3' untranslated regions of the three genes were evaluated. In addition, 10 infertile patients with oligoasthenoteratozoospermia were studied in the same way, as well as nine infertile patients whose spermatozoa showed a reduction of the protamine 2 content. We did not detect any mutation in the three genes in any of the patients. We assume that the disturbances in the sperm chromatin condensation of our patients, and those described in the literature, are not primarily due to mutations in the genes for PRM1, PRM2 and TNP1.
AuthorsM Schlicker, V Schnülle, L Schneppel, V I Vorob'ev, W Engel
JournalHuman reproduction (Oxford, England) (Hum Reprod) Vol. 9 Issue 12 Pg. 2313-7 (Dec 1994) ISSN: 0268-1161 [Print] England
PMID7714151 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Chromatin
  • Chromosomal Proteins, Non-Histone
  • PRM1 protein, human
  • Protamines
  • protamine 2
  • spermatid transition proteins
Topics
  • Base Sequence
  • Cell Nucleus (physiology)
  • Chromatin (physiology)
  • Chromosomal Proteins, Non-Histone (genetics)
  • Female
  • Humans
  • Male
  • Molecular Sequence Data
  • Mutation
  • Polymerase Chain Reaction
  • Protamines (genetics)
  • Spermatozoa (ultrastructure)

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